EAS Familial Hypercholesterolaemia Studies Collaboration

NCT04272697 | Recruiting

• 1 other identifier: 19IC5437
• Study Type: observational
• Target: 75,000
• Locations: 1 country
• Sites: 1

Brief Summary

Familial hypercholesterolaemia (FH) is a common genetic disorder resulting in marked elevations in low-density lipoprotein cholesterol (LDL-C). If untreated, lifelong exposure to elevated LDL-C results in a substantially increased risk of (premature) cardiovascular disease as compared to the general population. Although FH adverse cardiovascular outcomes are potentially preventable through early identification of FH individuals and initiation of effective treatment, reports shows that FH is under-diagnosed and under-treated. Efforts to tackle the global burden of FH have been hindered by a lack of global cohesion, with data held in disparate formats across many sites/countries, resulting in fragmentation and lack of harmonized data from different cohorts. A lack of structure and the availability of limited resources have made it hitherto difficult to integrate these cohorts thus far. The EAS FHSC is a global initiative of stakeholders involved in the care of people living with FH that seeks to empower the medical and global community to seek changes in their respective countries or organisations to promote early diagnosis and effective treatment of FH. The FHSC Global Registry is a comprehensive, robust database of compiled secondary, unidentifiable, anonymised data on the burden of FH worldwide. These secondary data are sourced from multiple active national/regional/local registries across nearly 60 countries thus far, independent and external to the FHSC, and submitted to the FHSC Registry where data is standardised, pooled, harmonised and integrated into a single global database. The FHSC Global Registry currently contains over 60,000 cases and remains active and will continue to receive secondary data over the years ahead. This multi-national pooled dataset facilitates clinical observational (non-interventional) studies to address multiple scientific inquires. This hypothesis-free epidemiology research will report on the characteristics of FH worldwide more accurately and inform the development of clinical guidelines and healthcare policy.

Conditions

Familial Hypercholesterolemia

Keywords

Familial hypercholesterolaemia; Primary dyslipidaemia; Cardiovascular disease prevention; LDL cholesterol; Genetic lipids disorders

Outcome Measures

Primary Outcomes (5)

• Diagnosis of Familial Hypercholesterolaemia

  Type of FH (Heterozygous FH, Homozygous FH). What clinical and/or genetic diagnostic criteria was used to diagnose FH. In the case of clinical diagnosis, what criteria system was used (Dutch Lipid Clinics Network, MedPed, Simon-Broome, Japanese \[JAS\] guidelines criteria, Canadian FH criteria, or other to be specified), what is the likelihood of the diagnosis (possible, probable, definite) and the diagnostic score, and what criteria within the clinical diagnostic system were met (family history of cardiovascular disease \[CVD\], personal history of premature CVD, physical examination \[xanthomas, arcus corneallis\], LDL-Cholesterol levels). In the case of genetic diagnosis, what gene was affected (LDL receptor, Apolipoprotein B, PCSK9, LDLRAP1, other to be specified). Age at diagnosis of FH.

  Baseline

• Change in Lipid levels from diagnosis of FH/baseline to follow up

  Total cholesterol, LDL-Cholesterol, HDL-Cholesterol, Non-HDL-Cholesterol, Triglycerides, Apolipoprotein A, Apolipoprotien B, Lipoprotein(a)

  Baseline and follow-up through study completion, average 5 years

• Characteristics, vascular risk factors and cardiovascular comorbidity associated to FH patients

  General and demographic characteristics, including gender, age, ethnicity, and world geographical region. Cardiovascular Risk Factors, including hypertension, diabetes (and type I or II), smoking, body mass index, systolic and diastolic blood pressure, and family history of cardiovascular diseases (CVD). Cardiovascular Diseases, including coronary artery disease, cerebrovascular disease and peripheral artery disease, and the age at diagnosis (i.e. premature or non-premature CVD).

  Baseline

• Change in Management of FH patients over time

  Whether patient is on lipid-lowering medication or not. Among those on lipid-lowering medication, what drug, including statins, ezetimibe, PCSK9 inhibitors, other lipid-lowering drugs. In each case, type of drug within each class and dose. Proportion of patients who met the guideline-recommended target attainment (LDL-C and non-HDL-C targets, based on the baseline cardiovascular risk) and associated factors.

  Baseline and follow-up through study completion, average 5 years

• Risk of adverse outcomes in patients with FH

  Major Adverse Cardiovascular Events (composite of fatal and non-fatal coronary heart disease, fatal and non-fatal stroke, peripheral vascular disease, and revascularization); Cardiovascular mortality; All-cause mortality.

  Through study completion, an average 5 years

Study Arms (3)

Heterozygous Familial Hypercholesterolaemia

Adults and children with Heterozygous Familial Hypercholesterolaemia.

Homozygous Familial Hypercholesterolaemia

Adults and children with Homozygous Familial Hypercholesterolaemia

Unaffected (non-FH) relatives of FH individuals

Adults and children with unaffected (non-FH) relatives of FH individuals

Eligibility Criteria

• Sex: all
• Healthy Volunteers: Yes
• Age Groups: Child (0-17), Adult (18-64), Older Adult (65+)
• Sampling Method: Non-Probability Sample

Study Population

Patients clinically and/or genetically diagnosed with familial hypercholesterolaemia (FH). Non-affected (non-FH) relatives of FH patients as healthy controls.

You may qualify if:

• Clinical and/or genetic diagnosis of heterozygous or homozygous familial hypercholesterolaemia (FH)
• Relatives of index cases without a diagnosis of FH where screening (cascade or other) is carried out.
• The data have been de-identified prior to transferring to the EAS FHSC Global Registry.

You may not qualify if:

• Secondary causes of dyslipidaemia (e.g. untreated hypothyroidism, cholestasis, nephrotic syndrome).
• Where data collection does not conform to the local or country wide standards for anonymised data.

Sponsors & Collaborators

• Imperial College London: lead

Study Sites (1)

School of Public Health, Imperial College London

London, W6 8RP, United Kingdom

RECRUITING

Related Publications (4)

• Vallejo-Vaz AJ, Kondapally Seshasai SR, Cole D, Hovingh GK, Kastelein JJ, Mata P, Raal FJ, Santos RD, Soran H, Watts GF, Abifadel M, Aguilar-Salinas CA, Akram A, Alnouri F, Alonso R, Al-Rasadi K, Banach M, Bogsrud MP, Bourbon M, Bruckert E, Car J, Corral P, Descamps O, Dieplinger H, Durst R, Freiberger T, Gaspar IM, Genest J, Harada-Shiba M, Jiang L, Kayikcioglu M, Lam CS, Latkovskis G, Laufs U, Liberopoulos E, Nilsson L, Nordestgaard BG, O'Donoghue JM, Sahebkar A, Schunkert H, Shehab A, Stoll M, Su TC, Susekov A, Widen E, Catapano AL, Ray KK. Familial hypercholesterolaemia: A global call to arms. Atherosclerosis. 2015 Nov;243(1):257-9. doi: 10.1016/j.atherosclerosis.2015.09.021. Epub 2015 Sep 18. No abstract available.

  PMID: 26408930 BACKGROUND

• EAS Familial Hypercholesterolaemia Studies Collaboration; Vallejo-Vaz AJ, Akram A, Kondapally Seshasai SR, Cole D, Watts GF, Hovingh GK, Kastelein JJ, Mata P, Raal FJ, Santos RD, Soran H, Freiberger T, Abifadel M, Aguilar-Salinas CA, Alnouri F, Alonso R, Al-Rasadi K, Banach M, Bogsrud MP, Bourbon M, Bruckert E, Car J, Ceska R, Corral P, Descamps O, Dieplinger H, Do CT, Durst R, Ezhov MV, Fras Z, Gaita D, Gaspar IM, Genest J, Harada-Shiba M, Jiang L, Kayikcioglu M, Lam CS, Latkovskis G, Laufs U, Liberopoulos E, Lin J, Lin N, Maher V, Majano N, Marais AD, Marz W, Mirrakhimov E, Miserez AR, Mitchenko O, Nawawi H, Nilsson L, Nordestgaard BG, Paragh G, Petrulioniene Z, Pojskic B, Reiner Z, Sahebkar A, Santos LE, Schunkert H, Shehab A, Slimane MN, Stoll M, Su TC, Susekov A, Tilney M, Tomlinson B, Tselepis AD, Vohnout B, Widen E, Yamashita S, Catapano AL, Ray KK. Pooling and expanding registries of familial hypercholesterolaemia to assess gaps in care and improve disease management and outcomes: Rationale and design of the global EAS Familial Hypercholesterolaemia Studies Collaboration. Atheroscler Suppl. 2016 Dec;22:1-32. doi: 10.1016/j.atherosclerosissup.2016.10.001. Epub 2016 Dec 7.

  PMID: 27939304 BACKGROUND

• EAS Familial Hypercholesterolaemia Studies Collaboration; Vallejo-Vaz AJ, De Marco M, Stevens CAT, Akram A, Freiberger T, Hovingh GK, Kastelein JJP, Mata P, Raal FJ, Santos RD, Soran H, Watts GF, Abifadel M, Aguilar-Salinas CA, Al-Khnifsawi M, AlKindi FA, Alnouri F, Alonso R, Al-Rasadi K, Al-Sarraf A, Ashavaid TF, Binder CJ, Bogsrud MP, Bourbon M, Bruckert E, Chlebus K, Corral P, Descamps O, Durst R, Ezhov M, Fras Z, Genest J, Groselj U, Harada-Shiba M, Kayikcioglu M, Lalic K, Lam CSP, Latkovskis G, Laufs U, Liberopoulos E, Lin J, Maher V, Majano N, Marais AD, Marz W, Mirrakhimov E, Miserez AR, Mitchenko O, Nawawi HM, Nordestgaard BG, Paragh G, Petrulioniene Z, Pojskic B, Postadzhiyan A, Reda A, Reiner Z, Sadoh WE, Sahebkar A, Shehab A, Shek AB, Stoll M, Su TC, Subramaniam T, Susekov AV, Symeonides P, Tilney M, Tomlinson B, Truong TH, Tselepis AD, Tybjaerg-Hansen A, Vazquez-Cardenas A, Viigimaa M, Vohnout B, Widen E, Yamashita S, Banach M, Gaita D, Jiang L, Nilsson L, Santos LE, Schunkert H, Tokgozoglu L, Car J, Catapano AL, Ray KK; EAS Familial Hypercholesterolaemia Studies Collaboration (FHSC) Investigators. Overview of the current status of familial hypercholesterolaemia care in over 60 countries - The EAS Familial Hypercholesterolaemia Studies Collaboration (FHSC). Atherosclerosis. 2018 Oct;277:234-255. doi: 10.1016/j.atherosclerosis.2018.08.051.

  PMID: 30270054 BACKGROUND

• European Atherosclerosis Society Familial Hypercholesterolaemia Studies Collaboration. Familial hypercholesterolaemia in children and adolescents from 48 countries: a cross-sectional study. Lancet. 2024 Jan 6;403(10421):55-66. doi: 10.1016/S0140-6736(23)01842-1. Epub 2023 Dec 12.

  PMID: 38101429 DERIVED

MeSH Terms

Conditions

Hyperlipoproteinemia Type II

Condition Hierarchy (Ancestors)

Lipid Metabolism, Inborn Errors; Metabolism, Inborn Errors; Genetic Diseases, Inborn; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hyperlipoproteinemias; Hyperlipidemias; Dyslipidemias; Lipid Metabolism Disorders; Metabolic Diseases; Nutritional and Metabolic Diseases

Study Officials

• Kausik Ray, MD MPhil

  Imperial College London

  PRINCIPAL INVESTIGATOR

Central Study Contacts

EAS FHSC Coordinating Centre

CONTACT

+44 (0)20 7594 2771; coordinator@eas-fhsc.org

Study Design

• Study Type: observational
• Observational Model: COHORT
• Time Perspective: PROSPECTIVE
• Target Duration: 5 Years
• Sponsor Type: OTHER
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: February 11, 2020
• First Posted: February 17, 2020
• Study Start: March 22, 2015
• Primary Completion (Estimated): December 1, 2030
• Study Completion (Estimated): December 1, 2030
• Last Updated: March 4, 2026

Record last verified: 2026-03

Data Sharing

• IPD Sharing: Will not share

Locations

GB (1)